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Exstrophy

MedGen UID:
488777
•Concept ID:
C0015338
•
Congenital Abnormality
SNOMED CT: Exstrophy (110407002)
 
HPO: HP:0100548

Definition

Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall. [from HPO]

Professional guidelines

PubMed

Genetic Counseling for Bladder Exstrophy-Epispadias Complex.
Reutter H, Holmdahl G
Eur J Pediatr Surg 2021 Dec;31(6):468-471. Epub 2021 Dec 15 doi: 10.1055/s-0041-1740336. PMID: 34911128
Isolated bladder exstrophy in prenatal diagnosis.
Mallmann MR, Mack-Detlefsen B, Reutter H, Pohle R, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Arch Gynecol Obstet 2019 Aug;300(2):355-363. Epub 2019 May 21 doi: 10.1007/s00404-019-05193-x. PMID: 31115647
Diagnosis and management of epispadias.
Frimberger D
Semin Pediatr Surg 2011 May;20(2):85-90. doi: 10.1053/j.sempedsurg.2011.01.003. PMID: 21453851

Recent clinical studies

Etiology

Genetic Counseling for Bladder Exstrophy-Epispadias Complex.
Reutter H, Holmdahl G
Eur J Pediatr Surg 2021 Dec;31(6):468-471. Epub 2021 Dec 15 doi: 10.1055/s-0041-1740336. PMID: 34911128
Sexuality in men with exstrophy.
Woodhouse CRJ
BJU Int 2017 Sep;120(3):301. doi: 10.1111/bju.13893. PMID: 28815980
Failed exstrophy closure.
Novak TE
Semin Pediatr Surg 2011 May;20(2):97-101. doi: 10.1053/j.sempedsurg.2010.12.004. PMID: 21453853
The exstrophy-epispadias complex.
Eeg KR, Khoury AE
Curr Urol Rep 2008 Mar;9(2):158-64. doi: 10.1007/s11934-008-0028-x. PMID: 18420001
Urolithiasis in the exstrophy-epispadias complex.
Silver RI, Gros DA, Jeffs RD, Gearhart JP
J Urol 1997 Sep;158(3 Pt 2):1322-6. doi: 10.1097/00005392-199709000-00175. PMID: 9258206

Diagnosis

Fetal abdominal wall defects.
Prefumo F, Izzi C
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):391-402. Epub 2013 Dec 3 doi: 10.1016/j.bpobgyn.2013.10.003. PMID: 24342556
Spectrum of cloacal exstrophy.
Phillips TM
Semin Pediatr Surg 2011 May;20(2):113-8. doi: 10.1053/j.sempedsurg.2010.12.007. PMID: 21453856
The exstrophy-epispadias complex.
Ebert AK, Reutter H, Ludwig M, Rösch WH
Orphanet J Rare Dis 2009 Oct 30;4:23. doi: 10.1186/1750-1172-4-23. PMID: 19878548Free PMC Article
Editorial. Paediatric urology.
Peters CA
Curr Opin Urol 2009 Jul;19(4):395-6. doi: 10.1097/MOU.0b013e32832c918d. PMID: 19483500
Pseudoexstrophy.
Mitchell W, Venable D, Patel AJ
Urology 1993 Feb;41(2):134-6. doi: 10.1016/0090-4295(93)90164-6. PMID: 8497983

Therapy

Ureterosigmoidostomy.
Zimmer V, Lammert F
Dig Liver Dis 2019 Nov;51(11):1618. Epub 2019 Sep 30 doi: 10.1016/j.dld.2019.08.026. PMID: 31582325
Scrotoschisis: a case report.
Sidibe S, Coulibaly M, Ghazwani S
J Med Case Rep 2017 Sep 13;11(1):259. doi: 10.1186/s13256-017-1427-8. PMID: 28899421Free PMC Article
Exstrophy Bladder - Reconstruction or Diversion for the Underprivileged.
Sarin YK, Sekhon V
Indian J Pediatr 2017 Sep;84(9):715-720. Epub 2017 Jul 18 doi: 10.1007/s12098-017-2419-9. PMID: 28721463
Fertility and sexual dysfunction issues in adults with genitourinary congenital anomalies.
Trofimenko V, Brant WO
Curr Opin Urol 2016 Jul;26(4):357-62. doi: 10.1097/MOU.0000000000000295. PMID: 27139192
Managing adult urinary incontinence from the congenitally incompetent bladder outlet.
Carrasco A Jr, Vemulakonda VM
Curr Opin Urol 2016 Jul;26(4):351-6. doi: 10.1097/MOU.0000000000000296. PMID: 27096718

Prognosis

Abdominal wall defects.
Lakshminarayanan B, Lakhoo K
Early Hum Dev 2014 Dec;90(12):917-20. Epub 2014 Oct 14 doi: 10.1016/j.earlhumdev.2014.09.018. PMID: 25448781
Fetal abdominal wall defects.
Prefumo F, Izzi C
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):391-402. Epub 2013 Dec 3 doi: 10.1016/j.bpobgyn.2013.10.003. PMID: 24342556
Female epispadias.
Shetty MV, Bhaskaran A, Sen TK
Afr J Paediatr Surg 2011 May-Aug;8(2):215-7. doi: 10.4103/0189-6725.86066. PMID: 22005369
The exstrophy-epispadias complex.
Ebert AK, Reutter H, Ludwig M, Rösch WH
Orphanet J Rare Dis 2009 Oct 30;4:23. doi: 10.1186/1750-1172-4-23. PMID: 19878548Free PMC Article
Female epispadias.
Mollard P, Basset T, Mure PY
J Urol 1997 Oct;158(4):1543-6. PMID: 9302170

Clinical prediction guides

Spectrum of fetal limb anomalies.
Thakur S, Chaddha V, Gupta R, Singh C, Dagar S, Shastri A, Tiwari B, Kavitha, Sethia V, Malik M, Jain P, Kapoor A, Kapoor A, Kapoor T, Kapoor A, Kapoor R, Kumar M, Uppal R
J Clin Ultrasound 2023 Jan;51(1):96-106. Epub 2022 Aug 10 doi: 10.1002/jcu.23273. PMID: 36639848
Epispadias and the associated embryopathies: genetic and developmental basis.
Suzuki K, Matsumaru D, Matsushita S, Murashima A, Ludwig M, Reutter H, Yamada G
Clin Genet 2017 Feb;91(2):247-253. Epub 2016 Oct 10 doi: 10.1111/cge.12871. PMID: 27649475
Fetal abdominal wall defects.
Prefumo F, Izzi C
Best Pract Res Clin Obstet Gynaecol 2014 Apr;28(3):391-402. Epub 2013 Dec 3 doi: 10.1016/j.bpobgyn.2013.10.003. PMID: 24342556
Prenatal ultrasound and urological anomalies.
Clayton DB, Brock JW 3rd
Pediatr Clin North Am 2012 Aug;59(4):739-56. Epub 2012 Jun 22 doi: 10.1016/j.pcl.2012.05.003. PMID: 22857826
Bladder exstrophy variants.
Corroppolo M, Zampieri N, Pietrobelli A, Giacomello L, Camoglio FS
Minerva Urol Nefrol 2007 Mar;59(1):109-13. PMID: 17431375

Recent systematic reviews

Long-term active problems in patients with cloacal exstrophy: A systematic review.
Musleh L, Privitera L, Paraboschi I, Polymeropoulos A, Mushtaq I, Giuliani S
J Pediatr Surg 2022 Mar;57(3):339-347. Epub 2021 Sep 4 doi: 10.1016/j.jpedsurg.2021.08.020. PMID: 34563362
Commentary on long-term active problems in patients with cloacal exstrophy: A systematic review.
Haney NM, Gearhart JP
J Pediatr Surg 2022 Mar;57(3):348-349. Epub 2021 Sep 16 doi: 10.1016/j.jpedsurg.2021.09.004. PMID: 34563356
Complete primary repair of bladder exstrophy: a systematic review.
Pathak P, Ring JD, Delfino KR, Dynda DI, Mathews RI
J Pediatr Urol 2020 Apr;16(2):149-153. Epub 2020 Jan 14 doi: 10.1016/j.jpurol.2020.01.004. PMID: 32144016
The Effect of Multiple Surgeries on Psychosocial Outcomes in Pediatric Patients: A Scoping Review.
Hu AC, Bertrand AA, Dang BN, Chan CH, Lee JC
Ann Plast Surg 2020 Nov;85(5):574-583. doi: 10.1097/SAP.0000000000002291. PMID: 32040002
Carcinoma arising in enteric diversion or rectal neobladder for bladder exstrophy.
Ragu R, Meurette G, Kim M, Le Normand L, Lehur PA
Tech Coloproctol 2016 Nov;20(11):745-752. Epub 2016 Sep 3 doi: 10.1007/s10151-016-1519-2. PMID: 27592221

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